Abstract
Congenital adrenal hyperplasia (CAH) is a genetic disorder characterized by decreased cortisol secretion, with 21-hydroxylase deficiency being the most common type. It is uncommon for CAH to present primarily as cholestasis; therefore, when a patient presents with prolonged jaundice, it is difficult to suspect CAH immediately. In this report, we aim to share our experience with an exceptional case of 21-hydroxylase deficiency. A 28-day-old male visited the outpatient clinic due to prolonged jaundice and elevated 17α-hydroxyprogesterone (17-OHP) levels in the newborn screening test. Since he showed no other symptoms such as lethargy or vomiting, he underwent a routine blood test for jaundice and a retest of 17-OHP at the outpatient clinic. Two hours after the blood draw, he was found to have severe hyponatremia and hyperkalemia, so he was immediately admitted to the intensive care unit. After treatment with hydrocortisone, fludrocortisone, sodium chloride, and intravenous fluids, the cholestasis and electrolyte imbalances improved over time. He was diagnosed with 21-hydroxylase deficiency, salt-wasting type, which was confirmed by the ACTH stimulation test and genetic testing. It is important to make a prompt diagnosis of CAH to avoid missing critical timing. Therefore, CAH should not be overlooked, even if the patient does not exhibit typical symptoms.
선천성 부신 과형성증, 21-수산화효소 결핍증은 부신스테로이드 생성에 영향을 미치는 상염색체 열성 질환으로, 무기질코르티코이드와 글루코코르티코이드의 합성이 저하됩니다. 선천성 부신 과형성증은 저혈압, 무기력, 구토, 저혈당과 같은 증상을 유발할 수 있으며, 염분소실형에서 심각한 경우 생명을 위협하는 부신 위기를 초래할 수 있습니다. 이 보고는 전형적인 부신 위기 증상 없이 지속되는 황달로 내원하여 염분소실형의 복합 이형접합체로 진단받은 드문 사례를 제시합니다. 선천성 부신 과형성증의 신속한 진단과 치료가 심각한 합병증을 예방하는 데 필요함을 강조하며, 신생아 선별검사와 철저한 임상 관찰의 중요성을 강조하는 바 입니다.